Canonical Allele Identifier: PA3063888711
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Met239Leu
CA38620196
NM_000447.3:c.715A>C
CA345040674
NM_000447.3:c.715A>T